在一项关于晒黑依赖性的全外显子组关联研究中鉴定出的新基因。
Novel gene identified in an exome-wide association study of tanning dependence.
作者信息
Cartmel Brenda, Dewan Andrew, Ferrucci Leah M, Gelernter Joel, Stapleton Jerod, Leffell David J, Mayne Susan T, Bale Allen E
机构信息
Yale School of Public Health, New Haven, CT, USA; Yale Cancer Center, New Haven, CT, USA.
出版信息
Exp Dermatol. 2014 Oct;23(10):757-9. doi: 10.1111/exd.12503.
Growing evidence suggests that some individuals may exhibit symptoms of dependence to ultraviolet light, a known carcinogen, in the context of tanning. Genetic associations with tanning dependence (TD) have not yet been explored. We conducted an exome-wide association study in 79 individuals who exhibited symptoms of TD and 213 individuals with volitional exposure to ultraviolet light, but who were not TD based on three TD scales. A total of 300 000 mostly exomic single nucleotide polymorphisms primarily in coding regions were assessed using an Affymetrix Axiom array. We performed a gene burden test with Bonferroni correction for the number of genes examined (P < 0.05/14 904 = 3.36 × 10(-6) ). One gene, patched domain containing 2 (PTCHD2), yielded a statistically significant P-value of 2.5 × 10(-6) (OR = 0.27) with fewer individuals classified as TD having a minor allele at this locus. These results require replication, but are the first to support a specific genetic association with TD.
越来越多的证据表明，在美黑的情况下，一些人可能会表现出对紫外线（一种已知的致癌物）的依赖症状。与美黑依赖（TD）的基因关联尚未得到探索。我们对79名表现出TD症状的个体和213名自愿暴露于紫外线下但根据三个TD量表未患TD的个体进行了全外显子组关联研究。使用Affymetrix Axiom阵列评估了总共30万个主要位于编码区域的外显子单核苷酸多态性。我们对所检测的基因数量进行了Bonferroni校正后进行基因负担测试（P < 0.05/14904 = 3.36×10⁻⁶）。一个基因，即含patched结构域2（PTCHD2），产生了统计学上显著的P值2.5×10⁻⁶（OR = 0.27），在该位点携带次要等位基因的被归类为TD的个体较少。这些结果需要重复验证，但首次支持了与TD的特定基因关联。
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